Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.G87V

SLC19A3

230 papers

RefSeq Summary

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a reces...

Pfam Domains

Folate_carrieraa 10–441UCSCReduced folate carrier

Gene Aliases

HGNC Name

solute carrier family 19 member 3

HGNC Alias Symbols

THTR2; thTr-2; hTHTR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025243.4
p.G87V
c.260G>T
Surrounding Variants
10 papers
NM_025243.4
p.S89R
c.265A>C
1 paper
NM_025243.4
p.L85S
c.254T>C
8 papers
NM_025243.4
p.S89R
c.267T>G
8 papers
NM_025243.4
p.S89R
c.267T>A
1 paper
NM_025243.4
p.F90S
c.269T>C
1 paper
NM_025243.4
p.I83F
c.247A>T
2 papers
NM_025243.4
p.V82_I83insGA
c.244_248ins6
1 paper
NM_025243.4
p.T93S
c.277A>T
1 paper
NM_025243.4
p.T93A
c.277A>G
1 paper
NM_025243.4
p.P81L
c.242C>T
1 paper
NM_025243.4
p.T93S
c.278C>G
1 paper
NM_025243.4
p.P81insFs
c.242_243insA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."